rs869025423

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;TG)	5.5	Marfan syndrome mutation
(TG;TG)	0	common in clinvar

Make rs869025423(-;-)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

48427619

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs869025423
dbSNP (classic)	rs869025423
ClinGen	rs869025423
ebi	rs869025423
HLI	rs869025423
Exac	rs869025423
Gnomad	rs869025423
Varsome	rs869025423
LitVar	rs869025423
Map	rs869025423
PheGenI	rs869025423
Biobank	rs869025423
1000 genomes	rs869025423
hgdp	rs869025423
ensembl	rs869025423
geneview	rs869025423
scholar	rs869025423
google	rs869025423
pharmgkb	rs869025423
gwascentral	rs869025423
openSNP	rs869025423
23andMe	rs869025423
SNPshot	rs869025423
SNPdbe	rs869025423
MSV3d	rs869025423
GWAS Ctlg	rs869025423

Max Magnitude

5.5

ClinVar
Risk	rs869025423(-;-)
Alt	rs869025423(-;-)
Reference	Rs869025423(TG;TG)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48719816_48719817delCA
CLNSRC
CLNACC	RCV000208498.1,